The ALS Association

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Different ALS Genes Cause Different Disease Processes

October 21, 2013

In work supported by The ALS Association and published in the journal Experimental Neurology, researchers have shown that critical aspects of the ALS disease process differ among different genetic forms of ALS. 

In the most common model of the disease, caused by mutations in the superoxide dismutase (SOD1) gene, central nervous system cells called astrocytes contribute to the death of motor neurons, the loss of which is responsible for the symptoms of ALS.

Researchers involved in the study tested whether astrocytes also contributed to motor neuron death in another model of the disease, based on mutations in the TDP-43 gene. They found that neither an excess of mutant TDP-43 protein, nor the absence of any protein, in astrocytes had any effect on motor neurons, whether grown in a lab dish or in the spinal cords of rodents. 

“These important findings tell us that different disease processes are likely at work in different types of ALS,” said Lucie Bruijn, Ph.D., Chief Scientist for The Association. “They reinforce that the most effective therapy may emerge from understanding the differences between forms of ALS and tailoring of treatments to these differences.”

The research was performed by Amanda Haidet-Phillips, Ph.D., under the leadership of Nicholas Maragakis, M.D., both of the Johns Hopkins School of Medicine in Baltimore, Md. Dr. Haidet-Phillips is the recipient of The Milton Safenowitz Post-Doctoral Fellowship for ALS Research Award, which encourages and facilitates promising young scientists to enter the ALS field. Funding for this two-year research award is made possible by the generosity of the Safenowitz family through the Greater New York Chapter of The ALS Association and is in memory of Mr. Safenowitz, who died of ALS in 1998. 

A portion of the Haidet-Phillips fellowship was funded through The E.F. Wallengren Fund for ALS Research. 

Read the press release.

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